A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260736



Internal ID22119346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5955869..6008172hg38UCSC Ensembl
Outerchr1:6015929..6068232hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381380
hg191380
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213689
Supporting Variants
SamplesHG00512
Known GenesKCNAB2, NPHP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260736
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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